Mutagenetix > Incidental Mutation

Incidental Mutation 'R2149:Anxa2'

234120

Institutional Source

Beutler Lab

Gene Symbol

Anxa2

Ensembl Gene

ENSMUSG00000032231

Gene Name

annexin A2

Synonyms

Cal1h, lipocortin II, 36-kDa calelectrin, annexin II

MMRRC Submission

040152-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2149 (G1)

Quality Score

174

Status

Not validated

Chromosome

Chromosomal Location

69360978-69399074 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

TCCC to TCC at 69397036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034756] [ENSMUST00000123470] [ENSMUST00000136282]

AlphaFold

P07356

Predicted Effect

probably null
Transcript: ENSMUST00000034756

SMART Domains

Protein: ENSMUSP00000034756
Gene: ENSMUSG00000032231

Domain	Start	End	E-Value	Type
ANX	50	102	5.79e-20	SMART
ANX	122	174	1.5e-27	SMART
ANX	207	259	8.2e-11	SMART
ANX	282	334	1.6e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123470

SMART Domains

Protein: ENSMUSP00000122175
Gene: ENSMUSG00000032231

Domain	Start	End	E-Value	Type
ANX	50	102	5.79e-20	SMART
ANX	122	174	1.5e-27	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000136282

SMART Domains

Protein: ENSMUSP00000117855
Gene: ENSMUSG00000032231

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
ANX	55	107	1.5e-27	SMART
ANX	140	192	8.2e-11	SMART
ANX	215	267	1.6e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154591

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are viable and fertile but suffer from growth deficits, impaired angiogenesis, and increased susceptibility to thrombosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,203,335 (GRCm39)	E414G	probably benign	Het
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Abca13	A	G	11: 9,217,508 (GRCm39)	T317A	possibly damaging	Het
Acap3	T	G	4: 155,990,082 (GRCm39)	L750R	probably damaging	Het
Anapc7	T	A	5: 122,581,889 (GRCm39)	S511T	probably benign	Het
Anp32a	T	A	9: 62,279,084 (GRCm39)	F46Y	probably benign	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arid2	T	C	15: 96,268,716 (GRCm39)	I943T	probably damaging	Het
Armh4	T	C	14: 49,989,028 (GRCm39)	D647G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Btnl6	T	C	17: 34,733,321 (GRCm39)	N218S	possibly damaging	Het
Capn11	T	C	17: 45,944,033 (GRCm39)		probably null	Het
Clcnkb	C	T	4: 141,135,328 (GRCm39)	G470D	probably damaging	Het
Clic6	T	A	16: 92,296,095 (GRCm39)	S252T	probably benign	Het
Col28a1	T	C	6: 8,155,383 (GRCm39)	K318E	possibly damaging	Het
Col5a3	A	T	9: 20,682,566 (GRCm39)	V1626D	unknown	Het
Col6a4	C	A	9: 105,954,128 (GRCm39)	A404S	probably benign	Het
Cyp2j5	G	T	4: 96,529,577 (GRCm39)	H265N	possibly damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Ecrg4	A	G	1: 43,781,496 (GRCm39)	D126G	probably damaging	Het
Emilin2	T	C	17: 71,580,987 (GRCm39)	S580G	probably benign	Het
Fbn2	C	A	18: 58,235,397 (GRCm39)		probably null	Het
Gfm1	T	C	3: 67,381,893 (GRCm39)	L693P	probably damaging	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gpha2	A	G	19: 6,277,012 (GRCm39)	T38A	probably damaging	Het
Gtf2h3	T	C	5: 124,737,848 (GRCm39)		probably benign	Het
Hmgxb3	T	C	18: 61,290,746 (GRCm39)	T376A	probably benign	Het
Hspa12b	A	G	2: 130,984,977 (GRCm39)	D416G	probably damaging	Het
Immt	C	T	6: 71,821,659 (GRCm39)	R28*	probably null	Het
Iqgap1	T	C	7: 80,412,308 (GRCm39)	Y180C	probably damaging	Het
Kcnq3	T	A	15: 65,895,578 (GRCm39)	D322V	probably damaging	Het
Kifc2	C	A	15: 76,546,421 (GRCm39)	L268I	probably benign	Het
Lama1	T	C	17: 68,080,860 (GRCm39)	M1296T	possibly damaging	Het
Lipk	A	G	19: 33,999,017 (GRCm39)	N104S	possibly damaging	Het
Lrrc14b	T	A	13: 74,511,876 (GRCm39)	N68I	possibly damaging	Het
Lrrc28	A	T	7: 67,181,430 (GRCm39)	D268E	probably damaging	Het
Ly6c2	T	C	15: 74,980,392 (GRCm39)	*132W	probably null	Het
Msh6	A	G	17: 88,293,516 (GRCm39)	E757G	probably damaging	Het
Mtss2	T	C	8: 111,453,015 (GRCm39)	V47A	possibly damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Nalcn	A	T	14: 123,607,429 (GRCm39)	I680N	probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Odr4	A	T	1: 150,264,310 (GRCm39)	N66K	probably benign	Het
Oosp2	A	T	19: 11,626,978 (GRCm39)	L17*	probably null	Het
Or10a5	A	T	7: 106,635,545 (GRCm39)	Y61F	possibly damaging	Het
Or13a28	C	T	7: 140,217,965 (GRCm39)	T117M	probably damaging	Het
Or8b48	T	C	9: 38,492,804 (GRCm39)	V77A	probably benign	Het
Or9i2	A	C	19: 13,815,946 (GRCm39)	V197G	probably damaging	Het
Pacc1	T	G	1: 191,077,306 (GRCm39)	F210V	probably benign	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Pde4dip	T	A	3: 97,700,152 (GRCm39)	Q300L	possibly damaging	Het
Phf2	T	C	13: 48,958,165 (GRCm39)	K950E	unknown	Het
Pira2	G	A	7: 3,847,170 (GRCm39)	P124L	probably damaging	Het
Plpp4	C	T	7: 128,981,095 (GRCm39)	T157I	probably benign	Het
Polrmt	G	A	10: 79,576,109 (GRCm39)	Q545*	probably null	Het
Ptprs	A	G	17: 56,724,706 (GRCm39)	F1511L	probably damaging	Het
Sbno1	T	C	5: 124,540,182 (GRCm39)		probably null	Het
Setd1a	T	A	7: 127,385,690 (GRCm39)	V256D	possibly damaging	Het
Slamf1	T	C	1: 171,594,840 (GRCm39)	S16P	probably damaging	Het
Slc16a14	T	C	1: 84,885,120 (GRCm39)	D473G	probably damaging	Het
Slc8a2	A	T	7: 15,893,089 (GRCm39)	H917L	probably damaging	Het
Sorbs2	A	C	8: 46,248,480 (GRCm39)	D442A	probably damaging	Het
Srp68	G	T	11: 116,151,693 (GRCm39)	T301K	possibly damaging	Het
Stab2	A	T	10: 86,700,904 (GRCm39)	C457*	probably null	Het
Stk31	T	G	6: 49,416,152 (GRCm39)	S652R	possibly damaging	Het
Stra6	T	G	9: 58,059,822 (GRCm39)	S594R	probably benign	Het
Tbc1d9	G	A	8: 83,998,078 (GRCm39)	E1212K	probably damaging	Het
Thada	C	T	17: 84,749,192 (GRCm39)	R593Q	probably damaging	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tmem132c	T	A	5: 127,540,026 (GRCm39)	W351R	probably damaging	Het
Trim10	C	T	17: 37,187,906 (GRCm39)	A374V	probably benign	Het
Try10	T	C	6: 41,333,495 (GRCm39)	V80A	probably benign	Het
Ttn	T	C	2: 76,559,707 (GRCm39)	T29565A	possibly damaging	Het
Uggt2	G	T	14: 119,312,757 (GRCm39)	Q351K	probably benign	Het
Vmn1r120	A	T	7: 20,786,889 (GRCm39)	V274D	probably damaging	Het
Vmn1r62	A	T	7: 5,678,358 (GRCm39)	H13L	probably benign	Het
Vmn2r101	C	T	17: 19,809,225 (GRCm39)	T118I	probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Wnt5a	A	G	14: 28,235,274 (GRCm39)	Y86C	probably damaging	Het
Xpa	T	C	4: 46,183,189 (GRCm39)	E200G	probably damaging	Het
Zc3h12a	C	T	4: 125,020,435 (GRCm39)	R136K	possibly damaging	Het
Zc3hav1	T	C	6: 38,313,472 (GRCm39)	H191R	probably damaging	Het
Zfp804a	A	G	2: 82,089,008 (GRCm39)	T946A	probably benign	Het

Other mutations in Anxa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Anxa2	APN	9	69,390,301 (GRCm39)	nonsense	probably null
IGL02550:Anxa2	APN	9	69,374,588 (GRCm39)	missense	probably benign	0.00
FR4342:Anxa2	UTSW	9	69,387,492 (GRCm39)	small insertion	probably benign
FR4342:Anxa2	UTSW	9	69,387,487 (GRCm39)	small insertion	probably benign
FR4548:Anxa2	UTSW	9	69,387,485 (GRCm39)	small insertion	probably benign
FR4589:Anxa2	UTSW	9	69,387,492 (GRCm39)	small insertion	probably benign
R1480:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1482:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1519:Anxa2	UTSW	9	69,392,523 (GRCm39)	missense	probably damaging	1.00
R1609:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1610:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1624:Anxa2	UTSW	9	69,386,990 (GRCm39)	missense	probably benign	0.10
R1672:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1696:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1760:Anxa2	UTSW	9	69,397,049 (GRCm39)	missense	probably benign	0.00
R1775:Anxa2	UTSW	9	69,395,363 (GRCm39)	missense	possibly damaging	0.93
R1828:Anxa2	UTSW	9	69,390,260 (GRCm39)	missense	probably damaging	1.00
R1884:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R1991:Anxa2	UTSW	9	69,391,098 (GRCm39)	missense	probably damaging	1.00
R2020:Anxa2	UTSW	9	69,391,099 (GRCm39)	missense	probably damaging	0.99
R2029:Anxa2	UTSW	9	69,371,762 (GRCm39)	missense	possibly damaging	0.71
R2103:Anxa2	UTSW	9	69,391,098 (GRCm39)	missense	probably damaging	1.00
R2129:Anxa2	UTSW	9	69,383,410 (GRCm39)	missense	possibly damaging	0.48
R2146:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R2148:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R2150:Anxa2	UTSW	9	69,397,036 (GRCm39)	frame shift	probably null
R2437:Anxa2	UTSW	9	69,397,046 (GRCm39)	missense	probably damaging	1.00
R3848:Anxa2	UTSW	9	69,374,624 (GRCm39)	missense	probably damaging	1.00
R4036:Anxa2	UTSW	9	69,395,352 (GRCm39)	missense	probably damaging	0.99
R4565:Anxa2	UTSW	9	69,397,019 (GRCm39)	missense	probably damaging	1.00
R4731:Anxa2	UTSW	9	69,393,812 (GRCm39)	missense	probably benign	0.41
R5172:Anxa2	UTSW	9	69,392,533 (GRCm39)	missense	probably damaging	0.99
R5181:Anxa2	UTSW	9	69,383,347 (GRCm39)	missense	probably benign	0.00
R6427:Anxa2	UTSW	9	69,383,431 (GRCm39)	critical splice donor site	probably null
R6759:Anxa2	UTSW	9	69,391,103 (GRCm39)	missense	probably damaging	1.00
R7725:Anxa2	UTSW	9	69,387,410 (GRCm39)	missense	unknown
R7734:Anxa2	UTSW	9	69,398,764 (GRCm39)	missense	probably benign	0.41
R8532:Anxa2	UTSW	9	69,374,594 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGATCACGACCCACATGAGTG -3'
(R):5'- AGGTCACCACTCTGCCATTG -3'

Sequencing Primer
(F):5'- CAGCTTTAGGGGATCTGACACTC -3'
(R):5'- GCCATTGTTCTCTACAGCCAC -3'

Posted On

2014-10-01